U.S. flag

An official website of the United States government

NM_018834.6(MATR3):c.2135A>G (p.Lys712Arg) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 20, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003247105.2

Allele description [Variation Report for NM_018834.6(MATR3):c.2135A>G (p.Lys712Arg)]

NM_018834.6(MATR3):c.2135A>G (p.Lys712Arg)

Genes:
LOC126807526:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:138657767-138658966 [Gene]
MATR3:matrin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.2
Genomic location:
Preferred name:
NM_018834.6(MATR3):c.2135A>G (p.Lys712Arg)
HGVS:
  • NC_000005.10:g.139322954A>G
  • NG_012846.1:g.53852A>G
  • NM_001194954.2:c.2135A>G
  • NM_001194955.2:c.2135A>G
  • NM_001194956.2:c.1271A>G
  • NM_001282278.2:c.1121A>G
  • NM_018834.6:c.2135A>GMANE SELECT
  • NM_199189.2:c.2135A>G
  • NM_199189.3:c.2135A>G
  • NP_001181883.1:p.Lys712Arg
  • NP_001181884.1:p.Lys712Arg
  • NP_001181885.1:p.Lys424Arg
  • NP_001269207.1:p.Lys374Arg
  • NP_061322.2:p.Lys712Arg
  • NP_954659.1:p.Lys712Arg
  • NC_000005.9:g.138658643A>G
Protein change:
K374R
Links:
dbSNP: rs750375963
NCBI 1000 Genomes Browser:
rs750375963
Molecular consequence:
  • NM_001194954.2:c.2135A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001194955.2:c.2135A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001194956.2:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282278.2:c.1121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018834.6:c.2135A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199189.3:c.2135A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003963710Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 20, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003963710.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.2135A>G (p.K712R) alteration is located in exon 15 (coding exon 11) of the MATR3 gene. This alteration results from a A to G substitution at nucleotide position 2135, causing the lysine (K) at amino acid position 712 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024